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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-51034282-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51034282&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51034282,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000266037.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "NM_004947.5",
"protein_id": "NP_004938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2030,
"cds_start": -4,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9069,
"mane_select": "ENST00000266037.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "ENST00000266037.10",
"protein_id": "ENSP00000266037.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2030,
"cds_start": -4,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9069,
"mane_select": "NM_004947.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_005264914.4",
"protein_id": "XP_005264971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2071,
"cds_start": -4,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_005264915.4",
"protein_id": "XP_005264972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2065,
"cds_start": -4,
"cds_end": null,
"cds_length": 6198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_005264916.5",
"protein_id": "XP_005264973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": -4,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_005264917.4",
"protein_id": "XP_005264974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2057,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 5,
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"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_006713008.4",
"protein_id": "XP_006713071.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_047447595.1",
"protein_id": "XP_047303551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2048,
"cds_start": -4,
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"cds_length": 6147,
"cdna_start": null,
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"cdna_length": 9123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 5,
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"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null,
"transcript": "XM_006713009.4",
"protein_id": "XP_006713072.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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],
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},
{
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],
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],
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK3",
"gene_hgnc_id": 2989,
"dbsnp": "rs13088462",
"frequency_reference_population": 0.032725815,
"hom_count_reference_population": 140,
"allele_count_reference_population": 4981,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0327258,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4981,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 140,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.496,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000266037.10",
"gene_symbol": "DOCK3",
"hgnc_id": 2989,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.316-30166T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}